Incidental Mutation 'R2370:Srprb'
| ID |
247498 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srprb
|
| Ensembl Gene |
ENSMUSG00000032553 |
| Gene Name |
signal recognition particle receptor, B subunit |
| Synonyms |
|
| MMRRC Submission |
040350-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R2370 (G1)
|
| Quality Score |
95 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
103065232-103079264 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 103074755 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 838
(R838H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127808
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035157]
[ENSMUST00000166836]
|
| AlphaFold |
P47758 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035157
AA Change: R129H
PolyPhen 2
Score 0.941 (Sensitivity: 0.80; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000035157
Gene: ENSMUSG00000032553
AA Change: R129H
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Arf
|
49 |
221 |
1.1e-17 |
PFAM |
|
Pfam:SRPRB
|
60 |
239 |
1.2e-75 |
PFAM |
|
Pfam:FeoB_N
|
63 |
214 |
7e-7 |
PFAM |
|
Pfam:MMR_HSR1
|
64 |
179 |
3.8e-9 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163567
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000166836
AA Change: R838H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000127808
Gene: ENSMUSG00000090639
AA Change: R838H
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
6 |
19 |
N/A |
INTRINSIC |
|
TR_FER
|
25 |
338 |
4.98e-175 |
SMART |
|
TR_FER
|
346 |
672 |
8.64e-193 |
SMART |
|
Pfam:Arf
|
758 |
928 |
1.5e-15 |
PFAM |
|
Pfam:SRPRB
|
769 |
948 |
1.4e-73 |
PFAM |
|
Pfam:MMR_HSR1
|
773 |
888 |
7.8e-8 |
PFAM |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 92.8%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene has similarity to mouse protein which is a subunit of the signal recognition particle receptor (SR). This subunit is a transmembrane GTPase belonging to the GTPase superfamily. It anchors alpha subunit, a peripheral membrane GTPase, to the ER membrane. SR is required for the cotranslational targeting of both secretory and membrane proteins to the ER membrane. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(6) : Gene trapped(6)
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
| Abca13 |
A |
G |
11: 9,206,185 (GRCm39) |
T162A |
possibly damaging |
Het |
| Adamts9 |
T |
A |
6: 92,837,184 (GRCm39) |
D578V |
probably damaging |
Het |
| Atp6v1a |
T |
C |
16: 43,927,403 (GRCm39) |
T295A |
probably benign |
Het |
| Brinp1 |
A |
G |
4: 68,681,184 (GRCm39) |
S449P |
probably damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,153,943 (GRCm39) |
T1072A |
probably benign |
Het |
| Chil4 |
C |
A |
3: 106,121,616 (GRCm39) |
E78* |
probably null |
Het |
| Cul7 |
A |
G |
17: 46,972,567 (GRCm39) |
Y1250C |
probably damaging |
Het |
| Dock3 |
T |
C |
9: 106,829,554 (GRCm39) |
D1120G |
probably damaging |
Het |
| Gfod1 |
A |
G |
13: 43,354,621 (GRCm39) |
M118T |
probably benign |
Het |
| Ints5 |
A |
G |
19: 8,874,143 (GRCm39) |
T701A |
probably benign |
Het |
| Map4k2 |
G |
T |
19: 6,391,958 (GRCm39) |
E91* |
probably null |
Het |
| Mast4 |
T |
A |
13: 102,910,695 (GRCm39) |
E457D |
probably damaging |
Het |
| Mettl4 |
T |
C |
17: 95,040,576 (GRCm39) |
D404G |
probably damaging |
Het |
| Mgat4a |
A |
G |
1: 37,503,614 (GRCm39) |
F58L |
probably damaging |
Het |
| Myh4 |
A |
G |
11: 67,146,454 (GRCm39) |
K1476E |
probably damaging |
Het |
| Myl7 |
T |
C |
11: 5,846,684 (GRCm39) |
E175G |
probably damaging |
Het |
| Myo18a |
A |
G |
11: 77,668,596 (GRCm39) |
E152G |
probably benign |
Het |
| Ncan |
G |
A |
8: 70,565,463 (GRCm39) |
T187I |
probably benign |
Het |
| Nfatc3 |
A |
G |
8: 106,835,087 (GRCm39) |
Y803C |
probably damaging |
Het |
| Nlrp4f |
T |
C |
13: 65,338,660 (GRCm39) |
Y659C |
probably damaging |
Het |
| Noxred1 |
T |
C |
12: 87,273,820 (GRCm39) |
T74A |
probably benign |
Het |
| Ntrk2 |
A |
T |
13: 59,202,248 (GRCm39) |
M619L |
probably benign |
Het |
| Or5w18 |
A |
T |
2: 87,633,159 (GRCm39) |
N142I |
probably benign |
Het |
| Orc4 |
A |
G |
2: 48,823,111 (GRCm39) |
V120A |
probably benign |
Het |
| Polq |
T |
A |
16: 36,894,301 (GRCm39) |
Y2037N |
probably damaging |
Het |
| Rimbp2 |
A |
G |
5: 128,880,908 (GRCm39) |
C160R |
probably damaging |
Het |
| Rps6ka4 |
T |
C |
19: 6,807,468 (GRCm39) |
S721G |
possibly damaging |
Het |
| Skap2 |
C |
T |
6: 51,898,310 (GRCm39) |
R140Q |
probably damaging |
Het |
|
| Other mutations in Srprb |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0308:Srprb
|
UTSW |
9 |
103,079,204 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R0739:Srprb
|
UTSW |
9 |
103,074,794 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1434:Srprb
|
UTSW |
9 |
103,067,501 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1679:Srprb
|
UTSW |
9 |
103,069,406 (GRCm39) |
splice site |
probably benign |
|
|
R2851:Srprb
|
UTSW |
9 |
103,076,038 (GRCm39) |
nonsense |
probably null |
|
|
R2853:Srprb
|
UTSW |
9 |
103,076,038 (GRCm39) |
nonsense |
probably null |
|
|
R4161:Srprb
|
UTSW |
9 |
103,078,529 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R4914:Srprb
|
UTSW |
9 |
103,079,147 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R5260:Srprb
|
UTSW |
9 |
103,079,119 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5588:Srprb
|
UTSW |
9 |
103,076,048 (GRCm39) |
nonsense |
probably null |
|
|
R5624:Srprb
|
UTSW |
9 |
103,074,800 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6052:Srprb
|
UTSW |
9 |
103,067,415 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9680:Srprb
|
UTSW |
9 |
103,074,807 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R9691:Srprb
|
UTSW |
9 |
103,069,481 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9775:Srprb
|
UTSW |
9 |
103,078,490 (GRCm39) |
missense |
probably benign |
0.19 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCGCAATCTGAAAAGCCAG -3'
(R):5'- GCTGCCTGCAGTAAACATTTGC -3'
Sequencing Primer
(F):5'- CCTTAAGCAGGCTCCTACG -3'
(R):5'- GCTTGATTCATGAGCTCAGC -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation